Mutagenetix > Incidental Mutation

Incidental Mutation 'R1429:Arhgef4'

161425

Institutional Source

Beutler Lab

Gene Symbol

Arhgef4

Ensembl Gene

ENSMUSG00000037509

Gene Name

Rho guanine nucleotide exchange factor 4

Synonyms

Asef, 9330140K16Rik, C230030N03Rik

MMRRC Submission

039485-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34717263-34851819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34849420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 481 (Y481C)

Ref Sequence

ENSEMBL: ENSMUSP00000124906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047534] [ENSMUST00000047664] [ENSMUST00000159021] [ENSMUST00000159747] [ENSMUST00000160855] [ENSMUST00000162599] [ENSMUST00000167518]

AlphaFold

Q7TNR9

Predicted Effect

probably benign
Transcript: ENSMUST00000047534

SMART Domains

Protein: ENSMUSP00000042212
Gene: ENSMUSG00000037503

Domain	Start	End	E-Value	Type
Pfam:TCRP1	1	194	1e-108	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000047664
AA Change: Y337C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035980
Gene: ENSMUSG00000037509
AA Change: Y337C

Domain	Start	End	E-Value	Type
SH3	1	45	6.97e-7	SMART
RhoGEF	82	261	3.86e-56	SMART
PH	294	402	2.33e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159021

SMART Domains

Protein: ENSMUSP00000124467
Gene: ENSMUSG00000037509

Domain	Start	End	E-Value	Type
SH3	1	45	6.97e-7	SMART
Pfam:RhoGEF	82	190	3.4e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159059

Predicted Effect

probably damaging
Transcript: ENSMUST00000159747
AA Change: Y1708C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: Y1708C

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
low complexity region	573	584	N/A	INTRINSIC
low complexity region	686	712	N/A	INTRINSIC
low complexity region	915	926	N/A	INTRINSIC
low complexity region	1119	1137	N/A	INTRINSIC
low complexity region	1240	1254	N/A	INTRINSIC
SH3	1361	1416	3.73e-16	SMART
RhoGEF	1453	1632	3.86e-56	SMART
PH	1665	1773	2.33e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160855

SMART Domains

Protein: ENSMUSP00000124207
Gene: ENSMUSG00000037509

Domain	Start	End	E-Value	Type
SH3	1	45	6.97e-7	SMART
Pfam:RhoGEF	82	187	1.2e-21	PFAM
low complexity region	194	211	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162599
AA Change: Y481C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509
AA Change: Y481C

Domain	Start	End	E-Value	Type
low complexity region	73	87	N/A	INTRINSIC
SH3	194	249	3.73e-16	SMART
Pfam:RhoGEF	304	405	1.2e-25	PFAM
PH	438	546	2.33e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162760

Predicted Effect

probably benign
Transcript: ENSMUST00000167518

SMART Domains

Protein: ENSMUSP00000131720
Gene: ENSMUSG00000037503

Domain	Start	End	E-Value	Type
Pfam:TCRP1	1	62	3.3e-26	PFAM
Pfam:TCRP1	54	206	1.1e-89	PFAM

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 89.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased angiogenesis, vascular endothelial cell migration, tumor growth, and tumor vascularization. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Alg8	C	T	7: 97,039,499 (GRCm39)	A410V	probably benign	Het
Armc8	A	G	9: 99,418,260 (GRCm39)	V56A	possibly damaging	Het
Cactin	T	C	10: 81,159,512 (GRCm39)	I23T	probably damaging	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Cfap54	T	C	10: 92,656,900 (GRCm39)	I3051V	probably benign	Het
Cpxm1	A	T	2: 130,238,364 (GRCm39)	I66N	probably damaging	Het
Ddx50	G	A	10: 62,482,847 (GRCm39)	T74I	possibly damaging	Het
Dnah7b	G	T	1: 46,328,816 (GRCm39)	D3183Y	possibly damaging	Het
Dsg1b	A	G	18: 20,523,252 (GRCm39)	D93G	probably damaging	Het
Ess2	G	A	16: 17,720,069 (GRCm39)	R427*	probably null	Het
Fam135a	T	G	1: 24,083,348 (GRCm39)	K292N	probably damaging	Het
Fam83b	G	T	9: 76,399,859 (GRCm39)	R415S	probably benign	Het
Fxyd3	T	A	7: 30,773,046 (GRCm39)	M1L	probably benign	Het
Gm5134	T	A	10: 75,814,215 (GRCm39)	M193K	probably damaging	Het
Golgb1	A	G	16: 36,720,925 (GRCm39)	E427G	possibly damaging	Het
Gpat3	G	A	5: 101,040,953 (GRCm39)	G338S	probably damaging	Het
Hmgxb3	C	T	18: 61,283,505 (GRCm39)	R606Q	probably damaging	Het
Itgb1	T	C	8: 129,444,157 (GRCm39)		probably null	Het
Myh1	C	A	11: 67,108,736 (GRCm39)	T1384K	possibly damaging	Het
Myo3b	A	C	2: 70,083,351 (GRCm39)	Q640P	probably damaging	Het
Naa16	A	G	14: 79,596,967 (GRCm39)	V305A	probably benign	Het
Or5h17	G	A	16: 58,820,501 (GRCm39)	G151D	possibly damaging	Het
Pgap1	T	C	1: 54,534,020 (GRCm39)	D631G	probably benign	Het
Phc2	C	A	4: 128,637,348 (GRCm39)	P51Q	probably damaging	Het
Pmel	G	A	10: 128,554,861 (GRCm39)		probably null	Het
Rassf8	G	T	6: 145,760,916 (GRCm39)	G81W	probably damaging	Het
Rfx2	G	T	17: 57,111,369 (GRCm39)	Q68K	probably damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Rsbn1l	A	G	5: 21,125,016 (GRCm39)	L262S	probably damaging	Het
S100a16	A	C	3: 90,449,391 (GRCm39)	Y22S	probably damaging	Het
Stx19	G	A	16: 62,642,960 (GRCm39)	V259I	possibly damaging	Het
Tas2r105	T	C	6: 131,663,904 (GRCm39)	I175V	probably benign	Het
Vmn2r67	T	A	7: 84,802,031 (GRCm39)	H90L	possibly damaging	Het
Wscd1	T	A	11: 71,651,000 (GRCm39)	L109Q	probably damaging	Het
Zfp423	T	A	8: 88,413,070 (GRCm39)	Q1154L	probably damaging	Het
Zmym6	T	C	4: 127,017,672 (GRCm39)	L1059P	probably damaging	Het

Other mutations in Arhgef4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Arhgef4	APN	1	34,850,777 (GRCm39)	missense	possibly damaging	0.88
IGL02376:Arhgef4	APN	1	34,845,140 (GRCm39)	missense	probably damaging	1.00
IGL02604:Arhgef4	APN	1	34,850,804 (GRCm39)	nonsense	probably null
IGL03240:Arhgef4	APN	1	34,845,107 (GRCm39)	missense	probably benign	0.03
BB004:Arhgef4	UTSW	1	34,846,334 (GRCm39)	missense	probably damaging	1.00
BB014:Arhgef4	UTSW	1	34,846,334 (GRCm39)	missense	probably damaging	1.00
R0095:Arhgef4	UTSW	1	34,771,451 (GRCm39)	nonsense	probably null
R0157:Arhgef4	UTSW	1	34,845,475 (GRCm39)	missense	probably damaging	1.00
R0243:Arhgef4	UTSW	1	34,846,080 (GRCm39)	splice site	probably null
R0383:Arhgef4	UTSW	1	34,849,614 (GRCm39)	missense	probably damaging	1.00
R0440:Arhgef4	UTSW	1	34,784,529 (GRCm39)	splice site	probably null
R0452:Arhgef4	UTSW	1	34,771,403 (GRCm39)	missense	probably damaging	0.97
R0893:Arhgef4	UTSW	1	34,846,191 (GRCm39)	missense	probably damaging	1.00
R1437:Arhgef4	UTSW	1	34,763,026 (GRCm39)	missense	unknown
R1669:Arhgef4	UTSW	1	34,771,239 (GRCm39)	missense	possibly damaging	0.86
R1780:Arhgef4	UTSW	1	34,763,241 (GRCm39)	missense	possibly damaging	0.73
R1809:Arhgef4	UTSW	1	34,849,636 (GRCm39)	critical splice donor site	probably null
R1879:Arhgef4	UTSW	1	34,761,521 (GRCm39)	missense	unknown
R1908:Arhgef4	UTSW	1	34,763,340 (GRCm39)	missense	probably benign	0.01
R1919:Arhgef4	UTSW	1	34,850,221 (GRCm39)	missense	probably damaging	0.98
R2020:Arhgef4	UTSW	1	34,762,891 (GRCm39)	missense	unknown
R2058:Arhgef4	UTSW	1	34,761,458 (GRCm39)	missense	unknown
R2213:Arhgef4	UTSW	1	34,846,230 (GRCm39)	splice site	probably null
R2851:Arhgef4	UTSW	1	34,763,129 (GRCm39)	missense	unknown
R2852:Arhgef4	UTSW	1	34,763,129 (GRCm39)	missense	unknown
R2853:Arhgef4	UTSW	1	34,763,129 (GRCm39)	missense	unknown
R3697:Arhgef4	UTSW	1	34,761,521 (GRCm39)	missense	unknown
R4012:Arhgef4	UTSW	1	34,764,187 (GRCm39)	missense	possibly damaging	0.75
R4118:Arhgef4	UTSW	1	34,771,428 (GRCm39)	missense	probably damaging	0.98
R4133:Arhgef4	UTSW	1	34,845,185 (GRCm39)	missense	probably damaging	1.00
R4534:Arhgef4	UTSW	1	34,762,162 (GRCm39)	missense	unknown
R4535:Arhgef4	UTSW	1	34,762,162 (GRCm39)	missense	unknown
R4581:Arhgef4	UTSW	1	34,771,205 (GRCm39)	missense	possibly damaging	0.83
R4665:Arhgef4	UTSW	1	34,845,113 (GRCm39)	missense	possibly damaging	0.89
R4678:Arhgef4	UTSW	1	34,761,749 (GRCm39)	missense	unknown
R4684:Arhgef4	UTSW	1	34,850,866 (GRCm39)	splice site	probably null
R4706:Arhgef4	UTSW	1	34,771,298 (GRCm39)	missense	probably benign	0.00
R4745:Arhgef4	UTSW	1	34,846,356 (GRCm39)	missense	probably damaging	1.00
R4747:Arhgef4	UTSW	1	34,762,355 (GRCm39)	missense	unknown
R4988:Arhgef4	UTSW	1	34,762,535 (GRCm39)	missense	unknown
R5063:Arhgef4	UTSW	1	34,763,296 (GRCm39)	missense	probably benign	0.00
R5154:Arhgef4	UTSW	1	34,771,455 (GRCm39)	missense	probably benign	0.43
R5156:Arhgef4	UTSW	1	34,762,355 (GRCm39)	missense	unknown
R5263:Arhgef4	UTSW	1	34,764,078 (GRCm39)	missense	possibly damaging	0.84
R5450:Arhgef4	UTSW	1	34,846,405 (GRCm39)	intron	probably benign
R5807:Arhgef4	UTSW	1	34,846,696 (GRCm39)	intron	probably benign
R5863:Arhgef4	UTSW	1	34,761,926 (GRCm39)	missense	unknown
R6034:Arhgef4	UTSW	1	34,760,984 (GRCm39)	missense	unknown
R6034:Arhgef4	UTSW	1	34,760,984 (GRCm39)	missense	unknown
R6311:Arhgef4	UTSW	1	34,763,062 (GRCm39)	missense	unknown
R6315:Arhgef4	UTSW	1	34,762,558 (GRCm39)	missense	unknown
R6316:Arhgef4	UTSW	1	34,762,558 (GRCm39)	missense	unknown
R6318:Arhgef4	UTSW	1	34,762,558 (GRCm39)	missense	unknown
R6323:Arhgef4	UTSW	1	34,762,558 (GRCm39)	missense	unknown
R6324:Arhgef4	UTSW	1	34,762,558 (GRCm39)	missense	unknown
R6325:Arhgef4	UTSW	1	34,762,558 (GRCm39)	missense	unknown
R6340:Arhgef4	UTSW	1	34,771,304 (GRCm39)	missense	probably damaging	1.00
R6835:Arhgef4	UTSW	1	34,845,574 (GRCm39)	missense	probably damaging	1.00
R6981:Arhgef4	UTSW	1	34,761,533 (GRCm39)	missense	unknown
R7087:Arhgef4	UTSW	1	34,850,767 (GRCm39)	missense	probably damaging	0.96
R7297:Arhgef4	UTSW	1	34,846,273 (GRCm39)	missense	probably damaging	1.00
R7525:Arhgef4	UTSW	1	34,848,785 (GRCm39)	missense	probably damaging	1.00
R7614:Arhgef4	UTSW	1	34,771,316 (GRCm39)	missense	possibly damaging	0.67
R7693:Arhgef4	UTSW	1	34,763,222 (GRCm39)	missense	probably benign	0.01
R7892:Arhgef4	UTSW	1	34,760,885 (GRCm39)	missense	unknown
R7895:Arhgef4	UTSW	1	34,845,478 (GRCm39)	missense	probably damaging	1.00
R7927:Arhgef4	UTSW	1	34,846,334 (GRCm39)	missense	probably damaging	1.00
R7965:Arhgef4	UTSW	1	34,850,762 (GRCm39)	missense	probably benign
R7973:Arhgef4	UTSW	1	34,763,518 (GRCm39)	missense	possibly damaging	0.83
R7979:Arhgef4	UTSW	1	34,760,978 (GRCm39)	missense	unknown
R8160:Arhgef4	UTSW	1	34,762,655 (GRCm39)	missense	unknown
R8175:Arhgef4	UTSW	1	34,849,455 (GRCm39)	missense	probably benign
R8178:Arhgef4	UTSW	1	34,761,983 (GRCm39)	missense	unknown
R9046:Arhgef4	UTSW	1	34,850,846 (GRCm39)	missense	possibly damaging	0.92
R9077:Arhgef4	UTSW	1	34,760,824 (GRCm39)	missense	unknown
R9209:Arhgef4	UTSW	1	34,849,576 (GRCm39)	missense	probably benign
R9209:Arhgef4	UTSW	1	34,764,241 (GRCm39)	critical splice donor site	probably null
R9355:Arhgef4	UTSW	1	34,849,630 (GRCm39)	missense	probably benign	0.02
R9489:Arhgef4	UTSW	1	34,761,745 (GRCm39)	missense	unknown
R9509:Arhgef4	UTSW	1	34,762,772 (GRCm39)	missense	unknown
R9605:Arhgef4	UTSW	1	34,761,745 (GRCm39)	missense	unknown
R9665:Arhgef4	UTSW	1	34,849,518 (GRCm39)	missense	probably benign
R9675:Arhgef4	UTSW	1	34,845,108 (GRCm39)	missense	probably benign
R9790:Arhgef4	UTSW	1	34,832,445 (GRCm39)	critical splice donor site	probably null
R9791:Arhgef4	UTSW	1	34,832,445 (GRCm39)	critical splice donor site	probably null
RF012:Arhgef4	UTSW	1	34,763,565 (GRCm39)	small deletion	probably benign
X0062:Arhgef4	UTSW	1	34,763,308 (GRCm39)	missense	probably benign	0.35
YA93:Arhgef4	UTSW	1	34,771,298 (GRCm39)	missense	probably benign	0.00
Z1176:Arhgef4	UTSW	1	34,844,007 (GRCm39)	missense	probably damaging	1.00
Z1176:Arhgef4	UTSW	1	34,762,810 (GRCm39)	missense	unknown
Z1177:Arhgef4	UTSW	1	34,763,340 (GRCm39)	missense	probably benign	0.01
Z1177:Arhgef4	UTSW	1	34,762,447 (GRCm39)	missense	unknown
Z1177:Arhgef4	UTSW	1	34,762,002 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGATCAAGTCTCCCTCTGCAAGCC -3'
(R):5'- AGTGAGCTACTCCCATCAGACTCAG -3'

Sequencing Primer
(F):5'- ATGCACGAAGCCTTCCTTG -3'
(R):5'- CCATCAGACTCAGTCAATAGGG -3'

Posted On

2014-03-14